ClinVar Miner

List of variants studied for canthal anomaly by Mendelics

Included ClinVar conditions (57):
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Total variants: 17
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HGVS dbSNP
NM_001371623.1(TCOF1):c.1552G>A (p.Gly518Arg) rs201537012
NM_001371623.1(TCOF1):c.4064del (p.Pro1355fs) rs1581224630
NM_001371623.1(TCOF1):c.4087AAG[4] (p.Lys1367del) rs773205979
NM_001371623.1(TCOF1):c.630_631insCTG (p.Asp211_Val212insLeu) rs1581075276
NM_001371623.1(TCOF1):c.633_634del (p.Val212fs) rs1581075356
NM_004715.5(CTDP1):c.2418-207_2418-165dup rs147933855
NM_004985.5(KRAS):c.451-5617= rs4362222
NM_005633.3(SOS1):c.1490G>A (p.Arg497Gln) rs371314838
NM_005633.3(SOS1):c.1653_1655del (p.Arg552del) rs1572830219
NM_005633.3(SOS1):c.1705C>G (p.Leu569Val) rs200786705
NM_005633.3(SOS1):c.1727G>T (p.Arg576Ile) rs1553356023
NM_005633.3(SOS1):c.233T>G (p.Phe78Cys) rs201352584
NM_006939.4(SOS2):c.572C>G (p.Pro191Arg) rs72681869
NM_022464.5(SIL1):c.158_159del (p.Arg53fs)
NM_022464.5(SIL1):c.274C>T (p.Arg92Trp) rs149242794
NM_023067.4(FOXL2):c.772T>A (p.Tyr258Asn) rs28937885
NM_023067.4(FOXL2):c.948_955del (p.Pro317fs) rs1576469579

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